Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q359*
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LDLR

NM_000527.5:p.Q359*

Associated Papers

Risk for coronary artery disease among individuals with normal low-density lipoprotein cholesterol (LDL-C) levels.

Shi Z et al.

International Journal of Cardiology. Cardiovascular Risk and Prevention, 2026

41585861 (PubMed )
Supplement: mmc1.xlsx › sTable_1

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

Hutchcraft ML et al.

Journal of Personalized Medicine, 2022

Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.

Sanna C et al.

Atherosclerosis, 2016

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."